ClinVar Miner

Submissions for variant NM_031433.4(MFRP):c.1124+11C>G

gnomAD frequency: 0.00002  dbSNP: rs199473709
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000319303 SCV000367978 likely benign Retinal degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373798 SCV000367979 uncertain significance Isolated microphthalmia 6 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV002054909 SCV002409518 benign Isolated microphthalmia 5 2024-01-22 criteria provided, single submitter clinical testing
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV000058871 SCV000090391 not provided not provided no assertion provided not provided

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